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Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 12, pp. 1159 - 1169
Journal Article
by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article
Journal Article
by Mignot, Cyril and McMahon, Aoife C and Bar, Claire and Campeau, Philippe M and Davidson, Claire and Buratti, Julien and Nava, Caroline and Jacquemont, Marie-Line and Tallot, Marilyn and Milh, Mathieu and Edery, Patrick and Marzin, Pauline and Barcia, Giulia and Barnerias, Christine and Besmond, Claude and Bienvenu, Thierry and Bruel, Ange-Line and Brunga, Ledia and Ceulemans, Berten and Coubes, Christine and Cristancho, Ana G and Cunningham, Fiona and Dehouck, Marie-Bertille and Donner, Elizabeth J and Duban-Bedu, Bénédicte and Dubourg, Christèle and Gardella, Elena and Gauthier, Julie and Geneviève, David and Gobin-Limballe, Stéphanie and Goldberg, Ethan M and Hagebeuk, Eveline and Hamdan, Fadi F and Hančárová, Miroslava and Hubert, Laurence and Ioos, Christine and Ichikawa, Shoji and Janssens, Sandra and Journel, Hubert and Kaminska, Anna and Keren, Boris and Koopmans, Marije and Lacoste, Caroline and Laššuthová, Petra and Lederer, Damien and Lehalle, Daphné and Marjanovic, Dragan and Métreau, Julia and Michaud, Jacques L and Miller, Kathryn and Minassian, Berge A and Morales, Joannella and Moutard, Marie-Laure and Munnich, Arnold and Ortiz-Gonzalez, Xilma R and Pinard, Jean-Marc and Prchalová, Darina and Putoux, Audrey and Quelin, Chloé and Rosen, Alyssa R and Roume, Joelle and Rossignol, Elsa and Simon, Marleen E. H and Smol, Thomas and Shur, Natasha and Shelihan, Ivan and Štěrbová, Katalin and Vyhnálková, Emílie and Vilain, Catheline and Soblet, Julie and Smits, Guillaume and Yang, Samuel P and van der Smagt, Jasper J and van Hasselt, Peter M and van Kempen, Marjan and Weckhuysen, Sarah and Helbig, Ingo and Villard, Laurent and Héron, Delphine and Koeleman, Bobby and Møller, Rikke S and Lesca, Gaetan and Helbig, Katherine L and Nabbout, Rima and Verbeek, Nienke E and Depienne, Christel
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 837 - 849
Journal Article
by Mignot, Cyril and McMahon, Aoife C and Bar, Claire and Campeau, Philippe M and Davidson, Claire and Buratti, Julien and Nava, Caroline and Jacquemont, Marie-Line and Tallot, Marilyn and Milh, Mathieu and Edery, Patrick and Marzin, Pauline and Barcia, Giulia and Barnerias, Christine and Besmond, Claude and Bienvenu, Thierry and Bruel, Ange-Line and Brunga, Ledia and Ceulemans, Berten and Coubes, Christine and Cristancho, Ana G and Cunningham, Fiona and Dehouck, Marie-Bertille and Donner, Elizabeth J and Duban-Bedu, Bénédicte and Dubourg, Christèle and Gardella, Elena and Gauthier, Julie and Geneviève, David and Gobin-Limballe, Stéphanie and Goldberg, Ethan M and Hagebeuk, Eveline and Hamdan, Fadi F and Hančárová, Miroslava and Hubert, Laurence and Ioos, Christine and Ichikawa, Shoji and Janssens, Sandra and Journel, Hubert and Kaminska, Anna and Keren, Boris and Koopmans, Marije and Lacoste, Caroline and Laššuthová, Petra and Lederer, Damien and Lehalle, Daphné and Marjanovic, Dragan and Métreau, Julia and Michaud, Jacques L and Miller, Kathryn and Minassian, Berge A and Morales, Joannella and Moutard, Marie-Laure and Munnich, Arnold and Ortiz-Gonzalez, Xilma R and Pinard, Jean-Marc and Prchalová, Darina and Putoux, Audrey and Quelin, Chloé and Rosen, Alyssa R and Roume, Joelle and Rossignol, Elsa and Simon, Marleen E H and Smol, Thomas and Shur, Natasha and Shelihan, Ivan and Štěrbová, Katalin and Vyhnálková, Emílie and Vilain, Catheline and Soblet, Julie and Smits, Guillaume and Yang, Samuel P and van der Smagt, Jasper J and van Hasselt, Peter M and van Kempen, Marjan and Weckhuysen, Sarah and Helbig, Ingo and Villard, Laurent and Héron, Delphine and Koeleman, Bobby and Møller, Rikke S and Lesca, Gaetan and Helbig, Katherine L and Nabbout, Rima and Verbeek, Nienke E and Depienne, Christel
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 08/2019, Volume 21, Issue 8, pp. 1897 - 1898
This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML... 
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2013, Volume 8, Issue 1, pp. 192 - 192
Journal Article
by De Antonio, Marie and Dogan, Céline and Daidj, Ferroudja and Eymard, Bruno and Puymirat, Jack and Mathieu, Jean and Gagnon, Cynthia and Katsahian, Sandrine and Arne Bes, Marie Christine and Attarian, Shahram and Aube-Nathier, Anne-Catherine and Audic, Frédérique and Bach, Nathalie and Barnerias, Christine and Bedat-Millet, Anne-Laure and Behin, Anthony and Bellance, Remi and Benyaou, Rabah and Bombard, Véronique and Bouhour, Françoise and Boutte, Celia and Boyer, François and Cances, Claude and Chabrol, Brigitte and Chanson, Jean-Baptiste and Chapon, Françoise and Chasseriau, Raphaële and Cintas, Pascal and Cobo, Ana-Maria and Colombert, Vanessa and Cruz, Marie-Carmen and Cuisset, Jean-Marie and Deschamps, Romain and Desguerre, Isabelle and Durigneux, Julien and Duval, Fanny and Espil, Caroline and Fafin, Catherine and Feasson, Léonard and Fradin, Mélanie and Furby, Alain and Goldenberg, Alice and Grotto, Sarah and Ghorab, Karima and Guyant-Marechal, Lucie and Heron, Delphine and Isapof, Arnaud and Jacquin-Piques, Agnes and Journel, Hubert and Laforet, Pascal and Lagrue, Emmanuelle and Laroche-Raynaud, Cécile and Laugel, Vincent and Lebeau, Françoise and Magot, Armelle and Manel, Véronique and Mayer, Michèle and Mercier, Sandra and Menard, Dominique and Michaud, Maud and Minot, Marie-Christine and Morales, Raul-Juntas and Nadaj-Pakleza, Aleksandra and Noury, Jean-Baptiste and Pasquier, Laurent and Pellieux, Sybille and Pereon, Yann and Perrier, Julie and Peudenier, Sylviane and Preudhomme, Marguerite and Pouget, Jean and Quijano-Roy, Susana and Ragot-Mandry, Sylvie and Richelme, Christian and Rivier, François and Sabouraud, Pascal and Sacconi, Sabrina and Salort-Campana, Emmanuelle and Sarret, Catherine and Schaeffer, Stéphane and Sole, Guilhem and Stojkovic, Tanya and Taithe, Frédéric and Testard, Hervé and Tiffereau, Vincent and Urtizberea, Andoni and Vanhulle, Catherine and Vial, Christophe and Walther-Louvier, Ulrike and Zagnoli, Fabien and Hamroun, Dalil and Bassez, Guillaume and Filnemus Myotonic Dystrophy Study Group and the Filnemus Myotonic Dystrophy Study Group
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 122 - 14
The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most... 
Medical care | Rare disease registry | Research | Myotonic dystrophy | Platform | Rare diseases | Medical policy | Medical research | Care and treatment | Analysis | Medicine, Experimental | Patients | Standardization | Clinical trials | Epidemiology | Biomaterials | Studies | Consortia | Exercise | Cognition & reasoning | Collaboration | Biomarkers | Data collection | Guardians | Dystrophy | Genotypes | Life Sciences
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 7, pp. 779 - 790
Journal Article